C3150412[trait identifier] AND "Myriad Genetics, Inc."[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 56593	NM_017739.4(POMGNT1):c.1895+1G>T	TSPAN1, POMGNT1	Single nucleotide variant (intron variant +1 more)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 56592	NM_017739.4(POMGNT1):c.1895+1G>A	POMGNT1, TSPAN1	Single nucleotide variant (intron variant +1 more)	Muscular dystrophy-dystroglycanopathy +4 more	GPathogenic/Likely pathogenic
Select item 56582	NM_017739.4(POMGNT1):c.1539+1G>A	POMGNT1, TSPAN1	Single nucleotide variant (splice donor variant)	not provided +10 more	GPathogenic
Select item 872288	NM_017739.4(POMGNT1):c.1325G>A (p.Arg442His)	POMGNT1, TSPAN1 (R299H +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 997802	NM_017739.4(POMGNT1):c.1100G>A (p.Arg367His)	POMGNT1, TSPAN1 (R224H +2 more)	Single nucleotide variant (missense variant)	Intellectual disability +6 more	GConflicting classifications of pathogenicity
Select item 558512	NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp)	POMGNT1, TSPAN1 (R129W +1 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +5 more	GPathogenic/Likely pathogenic

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